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Journal Abstract Search

281 related items for PubMed ID: 16258657

  • 1. Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.
    Reed UC, Ferreira LG, Liu EC, Resende MB, Carvalho MS, Marie SK, Scaff M.
    Arq Neuropsiquiatr; 2005 Sep; 63(3B):785-90. PubMed ID: 16258657
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG.
    ; 1993 Sep. PubMed ID: 20301676
    [Abstract] [Full Text] [Related]

  • 3. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
    Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.
    Hum Mol Genet; 2005 Jan 15; 14(2):279-93. PubMed ID: 15563506
    [Abstract] [Full Text] [Related]

  • 4. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB.
    J Med Genet; 2005 Feb 15; 42(2):108-20. PubMed ID: 15689448
    [Abstract] [Full Text] [Related]

  • 5. [Collagen VI-related muscle disorders].
    Higuchi I.
    Brain Nerve; 2011 Nov 15; 63(11):1169-78. PubMed ID: 22068469
    [Abstract] [Full Text] [Related]

  • 6. Collagen VI related muscle disorders.
    Lampe AK, Bushby KM.
    J Med Genet; 2005 Sep 15; 42(9):673-85. PubMed ID: 16141002
    [Abstract] [Full Text] [Related]

  • 7. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
    Caria F, Cescon M, Gualandi F, Pichiecchio A, Rossi R, Rimessi P, Cotti Piccinelli S, Gallo Cassarino S, Gregorio I, Galvagni A, Ferlini A, Padovani A, Bonaldo P, Filosto M.
    Neuromuscul Disord; 2019 Sep 15; 29(9):657-663. PubMed ID: 31471117
    [Abstract] [Full Text] [Related]

  • 8. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
    Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML.
    Am J Hum Genet; 2003 Aug 15; 73(2):355-69. PubMed ID: 12840783
    [Abstract] [Full Text] [Related]

  • 9.
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  • 10. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F.
    Neuromuscul Disord; 2005 Apr 15; 15(4):303-10. PubMed ID: 15792870
    [Abstract] [Full Text] [Related]

  • 11. Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
    Picillo E, Torella A, Passamano L, Nigro V, Politano L.
    Acta Myol; 2022 Jun 15; 41(2):95-98. PubMed ID: 35832501
    [Abstract] [Full Text] [Related]

  • 12. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
    Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F.
    Neurology; 2002 May 14; 58(9):1354-9. PubMed ID: 12011280
    [Abstract] [Full Text] [Related]

  • 13. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
    Zanoteli E, Soares PS, Silva AMSD, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Lopes Abath Neto O, Novo Filho GM, Kulikowski LD, Reed UC.
    Clin Neurol Neurosurg; 2020 May 14; 192():105734. PubMed ID: 32065942
    [Abstract] [Full Text] [Related]

  • 14. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
    Higuchi I.
    Rinsho Shinkeigaku; 2005 Nov 14; 45(11):935-7. PubMed ID: 16447767
    [Abstract] [Full Text] [Related]

  • 15. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
    Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG.
    Hum Mutat; 2008 Jun 14; 29(6):809-22. PubMed ID: 18366090
    [Abstract] [Full Text] [Related]

  • 16.
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  • 17. Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
    Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH.
    Muscle Nerve; 2018 Sep 14; 58(3):381-388. PubMed ID: 29406609
    [Abstract] [Full Text] [Related]

  • 18. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
    Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.
    Am J Hum Genet; 2002 Jun 14; 70(6):1446-58. PubMed ID: 11992252
    [Abstract] [Full Text] [Related]

  • 19.
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  • 20. Collagen type VI myopathies.
    Bushby KM, Collins J, Hicks D.
    Adv Exp Med Biol; 2014 Jun 14; 802():185-99. PubMed ID: 24443028
    [Abstract] [Full Text] [Related]

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